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HMNR11
Chr 19ARreticulon 2
Also known as: HMNR11, NSP2, NSPL1, NSPLI, SPG12
The protein encoded by this gene is a reticulon family member that localizes to the endoplasmic reticulum and functions in neuroendocrine secretion and membrane trafficking in neuroendocrine cells. Mutations cause autosomal recessive distal hereditary motor neuronopathy type 11 with spasticity, affecting both the motor neuron system and corticospinal tracts. The inheritance pattern is autosomal recessive, contrasting with the autosomal dominant spastic paraplegia-12 mentioned in some sources.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/HMNR11?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HMNR11 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No publications found for HMNR11
External Resources
Links to major genomics databases and tools